Variant report

Variant	rs17253447
Chromosome Location	chr8:124579286-124579287
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10088524	1.00[ASN][1000 genomes]
rs10109728	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11779050	1.00[ASN][1000 genomes]
rs11787322	1.00[ASN][1000 genomes]
rs17338685	1.00[YRI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28369198	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28490413	1.00[ASN][1000 genomes]
rs28634208	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28634843	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28759235	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55928410	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7017648	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831450	chr8:124471741-124661359	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124575600-124598600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:124577000-124579600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:124578000-124580800	Weak transcription	Fetal Heart	heart
4	chr8:124578200-124580600	Weak transcription	Placenta	Placenta
5	chr8:124578800-124582800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr8:124579200-124579400	Enhancers	Psoas Muscle	Psoas

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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